-
1
-
-
34547923133
-
The behavioral phenotype of Cornelia de Lange syndrome: A study of 56 individuals
-
Basile E, Villa L, Selicorni A, Molteni M. 2007. The behavioral phenotype of Cornelia de Lange syndrome: A study of 56 individuals. J Intellect Disabil Res 51:671–681.
-
(2007)
J Intellect Disabil Res
, vol.51
, pp. 671-681
-
-
Basile, E.1
Villa, L.2
Selicorni, A.3
Molteni, M.4
-
2
-
-
0032835107
-
Behavioural phenotype of Cornelia de Lange syndrome
-
Berney TP, Ireland M, Burn J. 1999. Behavioural phenotype of Cornelia de Lange syndrome. Arch Dis Child 81:333–336.
-
(1999)
Arch Dis Child
, vol.81
, pp. 333-336
-
-
Berney, T.P.1
Ireland, M.2
Burn, J.3
-
3
-
-
0030463120
-
The Sleep Disturbance Scale for Children (SDSC) construction and validation of an instrument to evaluate sleep disturbances in childhood and adolescence
-
Bruni O, Ottaviano S, Guidetti V, Romoli M, Innocenzi M, Cortesi F, Giannotti F. 1996. The Sleep Disturbance Scale for Children (SDSC) construction and validation of an instrument to evaluate sleep disturbances in childhood and adolescence. J Sleep Res 5:251–261.
-
(1996)
J Sleep Res
, vol.5
, pp. 251-261
-
-
Bruni, O.1
Ottaviano, S.2
Guidetti, V.3
Romoli, M.4
Innocenzi, M.5
Cortesi, F.6
Giannotti, F.7
-
4
-
-
84864968270
-
Gastroesophageal reflux disease and sleep disturbances
-
Fujiwara Y, Arakawa T, Fass R. 2012. Gastroesophageal reflux disease and sleep disturbances. J Gastroenterol 47:760–769.
-
(2012)
J Gastroenterol
, vol.47
, pp. 760-769
-
-
Fujiwara, Y.1
Arakawa, T.2
Fass, R.3
-
5
-
-
42449095521
-
Health and sleep problems in Cornelia de Lange syndrome: A case control study
-
Hall SS, Arron K, Sloneem J, Oliver C. 2008. Health and sleep problems in Cornelia de Lange syndrome: A case control study. J Intellect Disabil Res 52:458–468.
-
(2008)
J Intellect Disabil Res
, vol.52
, pp. 458-468
-
-
Hall, S.S.1
Arron, K.2
Sloneem, J.3
Oliver, C.4
-
6
-
-
34249904394
-
Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance
-
Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson L, FitzPatrick DR, Levin AV, Selicorni A. 2007. Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance. Amer J Med Genet Part A 143A:1287–1296.
-
(2007)
Amer J Med Genet Part A
, vol.143A
, pp. 1287-1296
-
-
Kline, A.D.1
Krantz, I.D.2
Sommer, A.3
Kliewer, M.4
Jackson, L.5
FitzPatrick, D.R.6
Levin, A.V.7
Selicorni, A.8
-
8
-
-
70350169074
-
Cornelia de Lange syndrome, cohesin, and beyond
-
Liu J, Krantz ID. 2009. Cornelia de Lange syndrome, cohesin, and beyond. Clin Genet 76:303–314.
-
(2009)
Clin Genet
, vol.76
, pp. 303-314
-
-
Liu, J.1
Krantz, I.D.2
-
9
-
-
84955089110
-
Broadening of cohesinopathies: Exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype
-
Parenti I, Gervasini C, Pozojevic J, Graul-Neumann L, Azzollini J, Braunholz D, Watrin E, Wendt KS, Cereda A, Cittaro D, Gillessen-Kaesbach G, Lazarevic D, Mariani M, Russo S, Werner R, Krawitz P, Larizza L, Selicorni A, Kaiser FJ. 2016. Broadening of cohesinopathies: Exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. Clin Genet 89:74–81.
-
(2016)
Clin Genet
, vol.89
, pp. 74-81
-
-
Parenti, I.1
Gervasini, C.2
Pozojevic, J.3
Graul-Neumann, L.4
Azzollini, J.5
Braunholz, D.6
Watrin, E.7
Wendt, K.S.8
Cereda, A.9
Cittaro, D.10
Gillessen-Kaesbach, G.11
Lazarevic, D.12
Mariani, M.13
Russo, S.14
Werner, R.15
Krawitz, P.16
Larizza, L.17
Selicorni, A.18
Kaiser, F.J.19
-
10
-
-
84861930911
-
Insomnia in Cornelia de Lange syndrome
-
Rajan R, Benke JR, Kline AD, Levy HP, Kimball A, Mettel TL, Boss EF, Ishman SL. 2012. Insomnia in Cornelia de Lange syndrome. Int J Pediatr Otorhinolaryngol 76:972–975.
-
(2012)
Int J Pediatr Otorhinolaryngol
, vol.76
, pp. 972-975
-
-
Rajan, R.1
Benke, J.R.2
Kline, A.D.3
Levy, H.P.4
Kimball, A.5
Mettel, T.L.6
Boss, E.F.7
Ishman, S.L.8
-
11
-
-
84878884053
-
Application of the sleep disturbance scale for children (SDSC) in preschool age
-
Romeo DM, Bruni O, Brogna C, Ferri R, Galluccio C, De Clemente V, Di Jorio M, Quintiliani M, Ricci D, Mercuri E. 2013. Application of the sleep disturbance scale for children (SDSC) in preschool age. Eur J Paediatr Neurol 17:374–382.
-
(2013)
Eur J Paediatr Neurol
, vol.17
, pp. 374-382
-
-
Romeo, D.M.1
Bruni, O.2
Brogna, C.3
Ferri, R.4
Galluccio, C.5
De Clemente, V.6
Di Jorio, M.7
Quintiliani, M.8
Ricci, D.9
Mercuri, E.10
-
12
-
-
34249864290
-
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation
-
Selicorni A, Russo S, Gervasini C, Castronovo P, Milani D, Larizza L. 2007. Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. Clin Genet 72:98–108.
-
(2007)
Clin Genet
, vol.72
, pp. 98-108
-
-
Selicorni, A.1
Russo, S.2
Gervasini, C.3
Castronovo, P.4
Milani, D.5
Larizza, L.6
-
13
-
-
78651069922
-
Characterization of sleep disturbance in Cornelia de Lange syndrome
-
Stavinoha RC, Kline AD, Levy HP, Kimball A, Mettel TL, Ishman SL. 2011. Characterization of sleep disturbance in Cornelia de Lange syndrome. Int J Pediatr Otorhinolaryngol 75:215–218.
-
(2011)
Int J Pediatr Otorhinolaryngol
, vol.75
, pp. 215-218
-
-
Stavinoha, R.C.1
Kline, A.D.2
Levy, H.P.3
Kimball, A.4
Mettel, T.L.5
Ishman, S.L.6
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